Canonical Allele Identifier: CA2645836301
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039621-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039621C>A , CM000663.2:g.55039621C>A GRCh38
NC_000001.10:g.55505294C>A , CM000663.1:g.55505294C>A GRCh37
NC_000001.9:g.55277882C>A NCBI36
NG_009061.1:g.5075C>A , LRG_275:g.5075C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.-217C>A ENSP00000501161.2:n.-217C>A
ENST00000710286.1:c.141C>A ENSP00000518176.1:p.Ser47Arg
ENST00000673726.1:c.-217C>A ENSP00000501004.1:n.-217C>A
ENST00000302118.5:c.-217C>A MANE Select ENSP00000303208.5:n.-217C>A
NM_174936.3:c.-217C>A , LRG_275t1:c.-217C>A NP_777596.2:n.-217C>A
NM_174936.4:c.-217C>A MANE Select NP_777596.2:n.-217C>A
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